ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.5465C>T (p.Ser1822Leu)

gnomAD frequency: 0.00002  dbSNP: rs150946585
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001228986 SCV001401416 uncertain significance Congenital myasthenic syndrome 8 2021-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004978160 SCV005572206 uncertain significance Inborn genetic diseases 2024-09-27 criteria provided, single submitter clinical testing The c.5465C>T (p.S1822L) alteration is located in exon 32 (coding exon 32) of the AGRN gene. This alteration results from a C to T substitution at nucleotide position 5465, causing the serine (S) at amino acid position 1822 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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